Xfe progeroid syndrome

Preferred Label : Xfe progeroid syndrome;

Symbol : XFEPS;

CISMeF acronym : XFEPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xpf-ercc1 progeroid syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 4 gene (ERCC4, 133520.0003);

Neoplasia : No evidence of skin cancer;

Laboratory abnormalities : Fibroblasts showed reduced levels of UV_induced DNA damage repair ( 5% normal);

Prefixed ID : #610965;

Détails

Origin ID

610965;

UMLS CUI

C1970416;

Currated CISMeF NLP mapping
- XFE Progeroid Syndrome [NCIt concept]
- XFE progeroid syndrome [DO Concept]
- XFE progeroid syndrome [MeSH concept]
- XFE progeroid syndrome [MeSH Supplementary Concept]
DO Cross reference
- XFE progeroid syndrome [DO Concept]
Genes related to phenotype
- Ercc excision repair 4, endonuclease catalytic subunit [OMIM gene]
HPO term(s)
- Absence of subcutaneous fat [HPO term]
- Ascites [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cachexia [HPO term]
- Convex nasal ridge [HPO term]
- Corneal scarring [HPO term]
- Cutaneous photosensitivity [HPO term]
- Death in adolescence [HPO term]
- Deeply set eye [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Dermal atrophy [HPO term]
- Dry skin [HPO term]
- Elevated hepatic transaminase [HPO term]
- Enamel hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Hearing impairment [HPO term]
- High pitched voice [HPO term]
- Hypertension [HPO term]
- Hypoalbuminemia [HPO term]
- Intellectual disability, mild [HPO term]
- Microcephaly [HPO term]
- Narrow face [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Poor coordination [HPO term]
- Premature loss of teeth [HPO term]
- Premature ovarian insufficiency [HPO term]
- Prematurely aged appearance [HPO term]
- Prominent supraorbital ridges [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
- obsolete Lack of subcutaneous fatty tissue [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- XFE Progeroid Syndrome [NCIt concept]
- XFE progeroid syndrome [MeSH Supplementary Concept]
- XFE progeroid syndrome [MeSH concept]
- XFE progeroid syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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